Search Results
Research Funding
Effort to accelerate understanding of the molecular basis of cancer using genome analysis technologies, including large-scale genome sequencing.
…  Kidney cancer progression linked to shifts in tumor metabolism  (2013)  Study establishes basis for genomic …
Staff
Dr. David Adams is a senior clinician in the Office of the Clinical Director, NHGRI, and co-director of the Undiagnosed Diseases Program at NIH. He serves as deputy director of clinical genomics in both.
… oculocutaneous albinism and disorders of free sialic acid metabolism. Dr. Adams conducted an albinism natural history …
News Release
The National Human Genome Research Institute (NHGRI) has announced plans to establish a new precision health research program within its Division of Intramural Research.
Staff
Dr. Douglas Stewart is an associate investigator in NHGRI's Center for Precision Health Research.
… in PCOS theca cells. Journal of Clinical Endocrinology and Metabolism , 90 (12): 6596-6602. 2005. [ PubMed ] Stewart DR, … regulatory activity. Journal of Clinical Endocrinology and Metabolism , 91 (10): 4112-4117. 2006. [ PubMed ] Stewart DR, … ovary syndrome. Journal of Clinical Endocrinology and Metabolism , 95(5): 2306-2315. 2010. [ PubMed ] Stewart DR, …
Research Training
An opportunity for medical school graduates to complete a combined, five-year residency program in pediatrics and medical genetics.
… Biology and Human Malformations; Inborn Errors of Metabolism; and Current Concepts in Clinical Molecular …
For Patients and Families
An adult has an "undiagnosed condition" when a physician is unable to find a diagnosis for certain characteristics or symptoms.
News Release
NIH researchers have uncovered a key factor in understanding the elevated cancer risk associated with gene therapy.
News Release
TCF1 (for T cell factor-1) is essential for the creation and persistence of disease-fighting antibodies in the bloodstream.
… in the new experiments showed signs of damage. Their metabolism and pattern of gene expression were different from … research target. The research team reported that the metabolism and gene expression of the crucial TFH cells are …
Staff
Dr. Amy Bentley is a Staff Scientist with the NHGRI's Center for Research on Genomics and Global Health.
… Metabolic Disorders. Expert Review of Endocrinology and Metabolism . 2012 Nov; 7(6): 659-69. Adeyemo A, Bentley AR …
The Genomics Landscape
NHGRI medical genetics training programs provide an array of education opportunities
… Research Program (IRP), focusing on inborn errors of metabolism. Training future generations of clinical … manage, and counsel patients with inborn errors of metabolism. Like the Medical Genetics Residency Program, this …